Predictive testing of known familial gene mutation from CarrierTest
Test covered by the reimbursement:
YES
Clinical expertise code:
208 Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood, Buccal swab
…
Turnover time:
3 weeks
STATIM:
1 week
Material:
Peripheral blood
| 1x 3 ml of whole blood in K3 EDTA tube
Storage after examination: week after the report is issued 2 – 8°C
Buccal swab
| 2x swab stick for buccal swab collection
Storage after examination: week after the report is issued 2 – 8°C
Isolated DNA from blood
| 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from chorionic villi
| 30–100 ng/μL of isolated DNA from chorionic villi in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from amniotic fluid
| 30–100 ng/μL of isolated DNA from amniocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Isolated DNA from cordocentesis
| 30–100 ng/μL of isolated DNA from cordocentesis in a microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
DNA isolated from the product of conception
| 50–100 ng/μL in microtube (Eppendorf type)
Storage after examination: stored in a DNA archive without restriction 15°C
Cultured cells
| 1.5 ml of cultured cells in a microtube (Eppendorf type)
Storage after examination: 180 days 2 – 8°C
Quick test description:
Testing for carriage of familial pathogenic mutations detected during testing in the CarrierTest panel NGS test.
Test details:
Fragmentation analysis (SOP-MGL-004), multiplex ligation-related amplification (SOP-MGL-020), Sanger sequencing (SOP-MGL-030) and PCR-hybridization strip assay (SOP-MGL-031) are used for predictive testing of patients with a known familial mutation.